List of variants reported as uncertain significance for Bethlem myopathy 2 by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_004370.6(COL12A1):c.8831C>T (p.Pro2944Leu)	rs199702595	0.00042
NM_004370.6(COL12A1):c.3818G>C (p.Gly1273Ala)	rs377553583	0.00003
NM_004370.6(COL12A1):c.5645C>T (p.Ala1882Val)	rs565471668	0.00003
NM_004370.6(COL12A1):c.741T>G (p.Ile247Met)	rs371124522	0.00003
NM_004370.6(COL12A1):c.1736C>T (p.Ala579Val)	rs747479664	0.00002
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser)	rs755536829	0.00001
NM_004370.6(COL12A1):c.1481T>G (p.Leu494Trp)
NM_004370.6(COL12A1):c.3942C>G (p.Asp1314Glu)	rs570245614
NM_004370.6(COL12A1):c.5840C>T (p.Pro1947Leu)	rs768626277
NM_004370.6(COL12A1):c.7024G>A (p.Val2342Ile)	rs745852751

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